List of variants reported as likely pathogenic for amelogenesis imperfecta type 2

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile)	rs61730849	0.00180
NM_001142.2(AMELX):c.289C>T (p.Gln97Ter)	rs2147573600
NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)
NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)
NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)
NM_004771.4(MMP20):c.359dup (p.Asn120fs)
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)	rs199788797
NM_004917.5(KLK4):c.620_621del (p.Ser207fs)	rs768235705
NM_182758.4(WDR72):c.118C>T (p.Gln40Ter)
NM_182758.4(WDR72):c.2146del (p.Ala716fs)
NM_182758.4(WDR72):c.2388del (p.Lys796fs)
NM_182758.4(WDR72):c.2864T>G (p.Leu955Ter)
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)	rs770804941
NM_182758.4(WDR72):c.954+1_954+10del
NM_182758.4:c.-13+989_7del

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